Early onset epileptic encephalopathy caused by de novo SCN8A mutations von Ohba, Chihiro, Kato, Mitsuhiro, Takahashi, Satoru, Lerman‐Sagie, Tally, Lev, Dorit, Terashima, Hiroshi, Kubota, Masaya, Kawawaki, Hisashi, Matsufuji, Mayumi, Kojima, Yasuko, Tateno, Akihiko, Goldberg‐Stern, Hadassa, Straussberg, Rachel, Marom, Dafna, Leshinsky‐Silver, Esther, Nakashima, Mitsuko, Nishiyama, Kiyomi, Tsurusaki, Yoshinori, Miyake, Noriko, Tanaka, Fumiaki, Matsumoto, Naomichi, Saitsu, Hirotomo

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De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy von Esmaeeli Nieh, Sahar, Madou, Maura R. Z., Sirajuddin, Minhajuddin, Fregeau, Brieana, McKnight, Dianalee, Lexa, Katrina, Strober, Jonathan, Spaeth, Christine, Hallinan, Barbara E., Smaoui, Nizar, Pappas, John G., Burrow, Thomas A., McDonald, Marie T., Latibashvili, Mariam, Leshinsky‐Silver, Esther, Lev, Dorit, Blumkin, Luba, Vale, Ronald D., Barkovich, Anthony James, Sherr, Elliott H.

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RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia von Daniella, Nishri, Hadassa, Goldberg-Stern, Iris, Noyman, Lubov, Blumkin, Sara, Kivity, Hirotomo, Saitsu, Mitsuko, Nakashima, Naomichi, Matsumoto, Esther, Leshinsky-Silver, Tally, Lerman- Sagie, Dorit, Lev

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KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect von Metz, Kyle A., Teng, Xinchen, Coppens, Isabelle, Lamb, Heather M., Wagner, Bart E., Rosenfeld, Jill A., Chen, Xianghui, Zhang, Yu, Kim, Hee Jong, Meadow, Michael E., Wang, Tim Sen, Haberlandt, Edda D., Anderson, Glenn W., Leshinsky‐Silver, Esther, Bi, Weimin, Markello, Thomas C., Pratt, Marsha, Makhseed, Nawal, Garnica, Adolfo, Danylchuk, Noelle R., Burrow, Thomas A., Jayakar, Parul, McKnight, Dianalee, Agadi, Satish, Gbedawo, Hatha, Stanley, Christine, Alber, Michael, Prehl, Isabelle, Peariso, Katrina, Ong, Min Tsui, Mordekar, Santosh R., Parker, Michael J., Crooks, Daniel, Agrawal, Pankaj B., Berry, Gerard T., Loddenkemper, Tobias, Yang, Yaping, Maegawa, Gustavo H. B., Aouacheria, Abdel, Markle, Janet G., Wohlschlegel, James A., Hartman, Adam L., Hardwick, J. Marie

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Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy von Ruzzo, Elizabeth K., Capo-Chichi, José-Mario, Ben-Zeev, Bruria, Chitayat, David, Mao, Hanqian, Pappas, Andrea L., Hitomi, Yuki, Lu, Yi-Fan, Yao, Xiaodi, Hamdan, Fadi F., Pelak, Kimberly, Reznik-Wolf, Haike, Bar-Joseph, Ifat, Oz-Levi, Danit, Lev, Dorit, Lerman-Sagie, Tally, Leshinsky-Silver, Esther, Anikster, Yair, Ben-Asher, Edna, Olender, Tsviya, Colleaux, Laurence, Décarie, Jean-Claude, Blaser, Susan, Banwell, Brenda, Joshi, Rasesh B., He, Xiao-Ping, Patry, Lysanne, Silver, Rachel J., Dobrzeniecka, Sylvia, Islam, Mohammad S., Hasnat, Abul, Samuels, Mark E., Aryal, Dipendra K., Rodriguiz, Ramona M., Jiang, Yong-hui, Wetsel, William C., McNamara, James O., Rouleau, Guy A., Silver, Debra L., Lancet, Doron, Pras, Elon, Mitchell, Grant A., Michaud, Jacques L., Goldstein, David B.

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Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy von Agamy, Orly, Ben Zeev, Bruria, Lev, Dorit, Marcus, Barak, Fine, Dina, Su, Dan, Narkis, Ginat, Ofir, Rivka, Hoffmann, Chen, Leshinsky-Silver, Esther, Flusser, Hagit, Sivan, Sara, Söll, Dieter, Lerman-Sagie, Tally, Birk, Ohad S.

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The molecular and phenotypic spectrum of IQSEC2‐related epilepsy von Zerem, Ayelet, Haginoya, Kazuhiro, Lev, Dorit, Blumkin, Lubov, Kivity, Sara, Linder, Ilan, Shoubridge, Cheryl, Palmer, Elizabeth Emma, Field, Michael, Boyle, Jackie, Chitayat, David, Gaillard, William D., Kossoff, Eric H., Willems, Marjolaine, Geneviève, David, Tran‐Mau‐Them, Frederic, Epstein, Orna, Heyman, Eli, Dugan, Sarah, Masurel‐Paulet, Alice, Piton, Ame'lie, Kleefstra, Tjitske, Pfundt, Rolph, Sato, Ryo, Tzschach, Andreas, Matsumoto, Naomichi, Saitsu, Hirotomo, Leshinsky‐Silver, Esther, Lerman‐Sagie, Tally

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Delineation of the interstitial 6q25 microdeletion syndrome: Refinement of the critical causative region von Michelson, Marina, Ben-Sasson, Anat, Vinkler, Chana, Leshinsky-Silver, Esther, Netzer, Ifat, Frumkin, Ayala, Kivity, Sara, Lerman-Sagie, Tally, Lev, Dorit

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EIF2S3 Mutations Associated with Severe X‐Linked Intellectual Disability Syndrome MEHMO von Skopkova, Martina, Hennig, Friederike, Shin, Byung‐Sik, Turner, Clesson E., Stanikova, Daniela, Brennerova, Katarina, Stanik, Juraj, Fischer, Ute, Henden, Lyndal, Müller, Ulrich, Steinberger, Daniela, Leshinsky‐Silver, Esther, Bottani, Armand, Kurdiova, Timea, Ukropec, Jozef, Nyitrayova, Olga, Kolnikova, Miriam, Klimes, Iwar, Borck, Guntram, Bahlo, Melanie, Haas, Stefan A., Kim, Joo‐Ran, Lotspeich‐Cole, Leda E., Gasperikova, Daniela, Dever, Thomas E., Kalscheuer, Vera M.

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Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings von Zerem, Ayelet, Lev, Dorit, Blumkin, Lubov, Goldberg-Stern, Hadassa, Michaeli-Yossef, Yael, Halevy, Ayelet, Kivity, Sara, Nakamura, Kazuyuki, Matsumoto, Naomichi, Leshinsky-Silver, Esther, Saitsu, Hirotomo, Lerman-Sagie, Tally

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De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy von Esmaeeli Nieh, Sahar, Madou, Maura R. Z., Sirajuddin, Minhajuddin, Fregeau, Brieana, McKnight, Dianalee, Lexa, Katrina, Strober, Jonathan, Spaeth, Christine, Hallinan, Barbara E., Smaoui, Nizar, Pappas, John G., Burrow, Thomas A., McDonald, Marie T., Latibashvili, Mariam, Leshinsky‐Silver, Esther, Lev, Dorit, Blumkin, Luba, Vale, Ronald D., Barkovich, Anthony James, Sherr, Elliott H.

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Chronic non-paroxysmal neuropathic pain — Novel phenotype of mutation in the sodium channel SCN9A gene von Dabby, Ron, Sadeh, Menachem, Gilad, Ronit, Lampl, Yair, Cohen, Sarit, Inbar, Shani, Leshinsky-Silver, Esther

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Myotonia in DNM2-related centronuclear myopathy von Dabby, Ron, Sadeh, Menachem, Gilad, Ronit, Jurkat-Rott, Karin, Lehmann-Horn, Frank, Leshinsky-Silver, Esther

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Painful small fiber neuropathy with gastroparesis: A new phenotype with a novel mutation in the SCN10A gene von Dabby, Ron, Sadeh, Menachem, Broitman, Yelena, Yosovich, Keren, Dickman, Ram, Leshinsky-Silver, Esther

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Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation von Böhm, Johann, Leshinsky-Silver, Esther, Vassilopoulos, Stéphane, Le Gras, Stéphanie, Lerman-Sagie, Tally, Ginzberg, Mira, Jost, Bernard, Lev, Dorit, Laporte, Jocelyn

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Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA–ND3 von Leshinsky-Silver, Esther, Lev, Dorit, Malinger, Gustavo, Shapira, Daniel, Cohen, Sarit, Lerman-Sagie, Tally, Saada, Ann

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Resolution of epileptic encephalopathy following treatment with transdermal nicotine von Zerem, Ayelet, Nishri, Daniella, Yosef, Yael, Blumkin, Lubuv, Lev, Dorit, Leshinsky‐Silver, Esther, Kivity, Sara, Lerman‐Sagie, Tally

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Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother von Michelson, Marina, Eden, Avi, Vinkler, Chana, Leshinsky-Silver, Esther, Kremer, Uri, Lerman-Sagie, Tally, Lev, Dorit

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MELAS syndrome associated with both A3243G-tRNALeu mutation and multiple mitochondrial DNA deletions von Aharoni, Sharon, Traves, Teres A, Melamed, Eldad, Cohen, Sarit, Silver, Esther Leshinsky

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Pediatric onset Crohn's colitis is characterized by genotype‐dependent age‐related susceptibility von Levine, Arie, Kugathasan, Subra, Annese, Vito, Biank, Vincent, Leshinsky‐Silver, Esther, Davidovich, Ofir, Kimmel, Gad, Shamir, Ron, Orazio, Palmieri, Karban, Amir, Broeckel, Ulrich, Cucchiara, Salvatore

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